LLGL2 (LLGL scribble cell polarity complex component 2) - Rat Genome Database

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Gene: LLGL2 (LLGL scribble cell polarity complex component 2) Homo sapiens
Analyze
Symbol: LLGL2
Name: LLGL scribble cell polarity complex component 2
RGD ID: 1353110
HGNC Page HGNC:6629
Description: Enables PDZ domain binding activity. Involved in L-leucine transport and regulation of establishment or maintenance of cell polarity. Located in cytosol and intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HGL; Hugl-2; human giant larvae homolog; lethal giant larvae homolog 2; lethal giant larvae homolog 2, scribble cell polarity complex component; lethal(2) giant larvae protein homolog 2; LGL2; LLGL2, scribble cell polarity complex component
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,525,002 - 75,575,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,525,080 - 75,575,209 (+)EnsemblGRCh38hg38GRCh38
GRCh371773,521,778 - 73,571,290 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,033,378 - 71,082,885 (+)NCBINCBI36Build 36hg18NCBI36
Build 341771,033,401 - 71,082,884NCBI
Celera1770,142,313 - 70,161,385 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,945,338 - 68,995,200 (+)NCBIHuRef
CHM1_11773,586,820 - 73,635,995 (+)NCBICHM1_1
T2T-CHM13v2.01776,418,368 - 76,468,378 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:12725730   PMID:14676191   PMID:14702039   PMID:15489334   PMID:15632202   PMID:18029348   PMID:18155665   PMID:18199550   PMID:19403135   PMID:19407852   PMID:19851296  
PMID:20198315   PMID:20233622   PMID:20360068   PMID:20941506   PMID:21873635   PMID:22580609   PMID:23110097   PMID:23332925   PMID:23397623   PMID:24104479   PMID:24318287   PMID:24366813  
PMID:24513855   PMID:25852190   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27521426   PMID:28514442   PMID:29491746   PMID:29509190   PMID:30575818   PMID:30639242   PMID:30996345  
PMID:31088962   PMID:31088964   PMID:31932471   PMID:31980649   PMID:32385218   PMID:32457219   PMID:32694731   PMID:32707033   PMID:33961781   PMID:34079125   PMID:34857952   PMID:35256949  
PMID:35271311   PMID:35748872   PMID:35831314   PMID:35944360   PMID:36192404   PMID:36574265   PMID:38720397  


Genomics

Comparative Map Data
LLGL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381775,525,002 - 75,575,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1775,525,080 - 75,575,209 (+)EnsemblGRCh38hg38GRCh38
GRCh371773,521,778 - 73,571,290 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,033,378 - 71,082,885 (+)NCBINCBI36Build 36hg18NCBI36
Build 341771,033,401 - 71,082,884NCBI
Celera1770,142,313 - 70,161,385 (+)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,945,338 - 68,995,200 (+)NCBIHuRef
CHM1_11773,586,820 - 73,635,995 (+)NCBICHM1_1
T2T-CHM13v2.01776,418,368 - 76,468,378 (+)NCBIT2T-CHM13v2.0
Llgl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,714,855 - 115,746,606 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,714,875 - 115,746,606 (+)EnsemblGRCm39 Ensembl
GRCm3811115,824,029 - 115,855,780 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,824,049 - 115,855,780 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711115,685,372 - 115,717,094 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,640,198 - 115,671,870 (+)NCBIMGSCv36mm8
MGSCv3611116,717,343 - 116,749,245 (+)NCBIMGSCv36mm8
Celera11127,584,531 - 127,618,413 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.91NCBI
Llgl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,549,911 - 101,585,466 (+)NCBIGRCr8
mRatBN7.210101,050,978 - 101,086,527 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10101,051,408 - 101,086,525 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10106,113,225 - 106,148,349 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,576,308 - 105,611,431 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010100,972,367 - 101,007,490 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010104,367,826 - 104,403,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,368,247 - 104,403,724 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010103,882,297 - 103,918,187 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,925,312 - 105,960,550 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1099,626,409 - 99,661,484 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Llgl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555532,378,101 - 2,415,152 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555532,377,640 - 2,415,152 (+)NCBIChiLan1.0ChiLan1.0
LLGL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21991,568,851 - 91,618,027 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11796,391,188 - 96,442,908 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01769,474,804 - 69,524,797 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11775,025,223 - 75,075,240 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,025,235 - 75,075,240 (+)Ensemblpanpan1.1panPan2
LLGL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,975,309 - 5,008,383 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,975,660 - 4,996,775 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,654,768 - 5,687,829 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.095,645,523 - 5,678,606 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl95,645,526 - 5,668,389 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.195,684,655 - 5,717,735 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.095,794,832 - 5,827,905 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.095,855,938 - 5,888,985 (-)NCBIUU_Cfam_GSD_1.0
Llgl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,619,466 - 5,629,867 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936594765,310 - 792,155 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936594754,140 - 792,493 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LLGL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,809,069 - 5,846,162 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1125,809,066 - 5,846,165 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LLGL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,103,080 - 46,151,576 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1646,102,939 - 46,135,594 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607716,865,930 - 16,917,202 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Llgl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248015,329,916 - 5,370,345 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248015,329,988 - 5,376,368 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LLGL2
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001031803.2(LLGL2):c.5G>C (p.Arg2Thr) single nucleotide variant not specified [RCV004320138] Chr17:75543431 [GRCh38]
Chr17:73539512 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1118C>T (p.Pro373Leu) single nucleotide variant not specified [RCV004288732] Chr17:75568557 [GRCh38]
Chr17:73564638 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1963C>T (p.Arg655Cys) single nucleotide variant not specified [RCV004306887] Chr17:75570436 [GRCh38]
Chr17:73566517 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.319G>A (p.Gly107Arg) single nucleotide variant not specified [RCV004311636] Chr17:75558575 [GRCh38]
Chr17:73554656 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1964G>A (p.Arg655His) single nucleotide variant not specified [RCV004282551] Chr17:75570437 [GRCh38]
Chr17:73566518 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.934C>T (p.Arg312Cys) single nucleotide variant not specified [RCV004328864] Chr17:75564405 [GRCh38]
Chr17:73560486 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
Single allele duplication not provided [RCV000677925] Chr17:73515088..73703749 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3 copy number gain not provided [RCV000683962] Chr17:73414856..74037715 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:73517536-73544160)x1 copy number loss not provided [RCV000739672] Chr17:73517536..73544160 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_001031803.2(LLGL2):c.1249A>G (p.Thr417Ala) single nucleotide variant not specified [RCV004282448] Chr17:75568688 [GRCh38]
Chr17:73564769 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73517536-73568125)x1 copy number loss not provided [RCV000752190] Chr17:73517536..73568125 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:73517536-73627539)x1 copy number loss not provided [RCV000752191] Chr17:73517536..73627539 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:73542671-73543084)x1 copy number loss not provided [RCV000752192] Chr17:73542671..73543084 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:73542671-73544160)x1 copy number loss not provided [RCV000752193] Chr17:73542671..73544160 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:73565171-73690287)x3 copy number gain not provided [RCV000752194] Chr17:73565171..73690287 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.1464C>T (p.Pro488=) single nucleotide variant not provided [RCV000967468] Chr17:75569119 [GRCh38]
Chr17:73565200 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.2230G>A (p.Ala744Thr) single nucleotide variant not provided [RCV000948455] Chr17:75571720 [GRCh38]
Chr17:73567801 [GRCh37]
Chr17:17q25.1		 benign|likely benign
NM_001031803.2(LLGL2):c.735C>T (p.Leu245=) single nucleotide variant not provided [RCV000895921] Chr17:75563372 [GRCh38]
Chr17:73559453 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.1414G>A (p.Asp472Asn) single nucleotide variant not specified [RCV004300183] Chr17:75569069 [GRCh38]
Chr17:73565150 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73413448-73568196)x1 copy number loss not provided [RCV000847285] Chr17:73413448..73568196 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_001031803.2(LLGL2):c.3010C>T (p.Arg1004Cys) single nucleotide variant not provided [RCV000887242] Chr17:75574623 [GRCh38]
Chr17:73570704 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.1915C>T (p.Pro639Ser) single nucleotide variant not provided [RCV000957654] Chr17:75570388 [GRCh38]
Chr17:73566469 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.2243G>A (p.Arg748His) single nucleotide variant not provided [RCV000911697] Chr17:75571733 [GRCh38]
Chr17:73567814 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.2745C>T (p.Pro915=) single nucleotide variant not provided [RCV000911698] Chr17:75573500 [GRCh38]
Chr17:73569581 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.1632G>C (p.Gln544His) single nucleotide variant not provided [RCV000957652] Chr17:75570013 [GRCh38]
Chr17:73566094 [GRCh37]
Chr17:17q25.1		 benign
NM_001031803.2(LLGL2):c.1875-5C>G single nucleotide variant not provided [RCV000957653] Chr17:75570343 [GRCh38]
Chr17:73566424 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:73049227-73533226) copy number loss not specified [RCV002052605] Chr17:73049227..73533226 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001031803.2(LLGL2):c.1549G>A (p.Gly517Ser) single nucleotide variant not specified [RCV004320080] Chr17:75569293 [GRCh38]
Chr17:73565374 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2648C>T (p.Pro883Leu) single nucleotide variant not specified [RCV004179156] Chr17:75573201 [GRCh38]
Chr17:73569282 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.500G>A (p.Arg167Gln) single nucleotide variant not specified [RCV004121819] Chr17:75559380 [GRCh38]
Chr17:73555461 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2842G>A (p.Gly948Ser) single nucleotide variant not specified [RCV004222123] Chr17:75573597 [GRCh38]
Chr17:73569678 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2213A>C (p.Asn738Thr) single nucleotide variant not specified [RCV004074826] Chr17:75571703 [GRCh38]
Chr17:73567784 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2992C>T (p.Arg998Cys) single nucleotide variant not specified [RCV004239058] Chr17:75574491 [GRCh38]
Chr17:73570572 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.113T>C (p.Leu38Pro) single nucleotide variant not specified [RCV004095820] Chr17:75556083 [GRCh38]
Chr17:73552164 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.98A>G (p.His33Arg) single nucleotide variant not specified [RCV004086754] Chr17:75556068 [GRCh38]
Chr17:73552149 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.3047A>G (p.Asn1016Ser) single nucleotide variant not specified [RCV004125930] Chr17:75574660 [GRCh38]
Chr17:73570741 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.3020G>C (p.Arg1007Pro) single nucleotide variant not specified [RCV004083011] Chr17:75574633 [GRCh38]
Chr17:73570714 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2507C>T (p.Thr836Met) single nucleotide variant not specified [RCV004141262] Chr17:75573060 [GRCh38]
Chr17:73569141 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1450G>A (p.Glu484Lys) single nucleotide variant not specified [RCV004141925] Chr17:75569105 [GRCh38]
Chr17:73565186 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.499C>T (p.Arg167Trp) single nucleotide variant not specified [RCV004181084] Chr17:75559379 [GRCh38]
Chr17:73555460 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.125C>T (p.Pro42Leu) single nucleotide variant not specified [RCV004182357] Chr17:75556095 [GRCh38]
Chr17:73552176 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2606A>C (p.Asn869Thr) single nucleotide variant not specified [RCV004144374] Chr17:75573159 [GRCh38]
Chr17:73569240 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2237C>T (p.Ser746Phe) single nucleotide variant not specified [RCV004085371] Chr17:75571727 [GRCh38]
Chr17:73567808 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2657G>A (p.Arg886His) single nucleotide variant not specified [RCV004232523] Chr17:75573210 [GRCh38]
Chr17:73569291 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2581G>A (p.Glu861Lys) single nucleotide variant not specified [RCV004079603] Chr17:75573134 [GRCh38]
Chr17:73569215 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1966C>T (p.Arg656Trp) single nucleotide variant not specified [RCV004184268] Chr17:75570439 [GRCh38]
Chr17:73566520 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.188G>T (p.Gly63Val) single nucleotide variant not specified [RCV004131379] Chr17:75558169 [GRCh38]
Chr17:73554250 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.989C>T (p.Ser330Phe) single nucleotide variant not specified [RCV004142692] Chr17:75564460 [GRCh38]
Chr17:73560541 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1447G>A (p.Gly483Ser) single nucleotide variant not specified [RCV004131221] Chr17:75569102 [GRCh38]
Chr17:73565183 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.856A>G (p.Ile286Val) single nucleotide variant not specified [RCV004100817] Chr17:75563781 [GRCh38]
Chr17:73559862 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.3025G>A (p.Ala1009Thr) single nucleotide variant not specified [RCV004164434] Chr17:75574638 [GRCh38]
Chr17:73570719 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1387C>T (p.Leu463Phe) single nucleotide variant not specified [RCV004087148] Chr17:75569042 [GRCh38]
Chr17:73565123 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2846C>T (p.Ala949Val) single nucleotide variant not specified [RCV004161349] Chr17:75573601 [GRCh38]
Chr17:73569682 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.686G>A (p.Ser229Asn) single nucleotide variant not specified [RCV004126892] Chr17:75563171 [GRCh38]
Chr17:73559252 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1427A>G (p.Asn476Ser) single nucleotide variant not specified [RCV004237239] Chr17:75569082 [GRCh38]
Chr17:73565163 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.721G>A (p.Asp241Asn) single nucleotide variant not specified [RCV004157984] Chr17:75563358 [GRCh38]
Chr17:73559439 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.457G>A (p.Val153Met) single nucleotide variant not specified [RCV004246771] Chr17:75559337 [GRCh38]
Chr17:73555418 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2902G>A (p.Glu968Lys) single nucleotide variant not specified [RCV004080742] Chr17:75573977 [GRCh38]
Chr17:73570058 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2936C>T (p.Ala979Val) single nucleotide variant not specified [RCV004195766] Chr17:75574243 [GRCh38]
Chr17:73570324 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2933G>A (p.Arg978His) single nucleotide variant not specified [RCV004150708] Chr17:75574240 [GRCh38]
Chr17:73570321 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.52C>T (p.Arg18Trp) single nucleotide variant not specified [RCV004196661] Chr17:75543478 [GRCh38]
Chr17:73539559 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2882C>T (p.Ser961Leu) single nucleotide variant not specified [RCV004167808] Chr17:75573957 [GRCh38]
Chr17:73570038 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2183G>A (p.Arg728Gln) single nucleotide variant not specified [RCV004138546] Chr17:75571673 [GRCh38]
Chr17:73567754 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.560T>G (p.Val187Gly) single nucleotide variant not specified [RCV004239418] Chr17:75563045 [GRCh38]
Chr17:73559126 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.557G>A (p.Arg186His) single nucleotide variant not specified [RCV004221137] Chr17:75563042 [GRCh38]
Chr17:73559123 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2155G>A (p.Ala719Thr) single nucleotide variant not specified [RCV004094371] Chr17:75571079 [GRCh38]
Chr17:73567160 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1280G>C (p.Ser427Thr) single nucleotide variant not specified [RCV004087621] Chr17:75568797 [GRCh38]
Chr17:73564878 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2675G>A (p.Arg892Gln) single nucleotide variant not specified [RCV004091764] Chr17:75573228 [GRCh38]
Chr17:73569309 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.874A>G (p.Arg292Gly) single nucleotide variant not specified [RCV004260669] Chr17:75563799 [GRCh38]
Chr17:73559880 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.121A>G (p.Ser41Gly) single nucleotide variant not specified [RCV004280688] Chr17:75556091 [GRCh38]
Chr17:73552172 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2252C>T (p.Pro751Leu) single nucleotide variant not specified [RCV004258545] Chr17:75571742 [GRCh38]
Chr17:73567823 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.796C>A (p.Pro266Thr) single nucleotide variant not specified [RCV004278841] Chr17:75563433 [GRCh38]
Chr17:73559514 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.3020G>A (p.Arg1007Gln) single nucleotide variant not specified [RCV004261858] Chr17:75574633 [GRCh38]
Chr17:73570714 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1219G>A (p.Ala407Thr) single nucleotide variant not specified [RCV004251664] Chr17:75568658 [GRCh38]
Chr17:73564739 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2561G>A (p.Arg854His) single nucleotide variant not specified [RCV004273853] Chr17:75573114 [GRCh38]
Chr17:73569195 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1412C>T (p.Thr471Ile) single nucleotide variant not specified [RCV004250796] Chr17:75569067 [GRCh38]
Chr17:73565148 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1306G>T (p.Asp436Tyr) single nucleotide variant not specified [RCV004287046] Chr17:75568823 [GRCh38]
Chr17:73564904 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.958G>A (p.Asp320Asn) single nucleotide variant not specified [RCV004249894] Chr17:75564429 [GRCh38]
Chr17:73560510 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.218A>G (p.Asn73Ser) single nucleotide variant not specified [RCV004270727] Chr17:75558199 [GRCh38]
Chr17:73554280 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.6G>T (p.Arg2Ser) single nucleotide variant not specified [RCV004320139] Chr17:75543432 [GRCh38]
Chr17:73539513 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1009G>C (p.Val337Leu) single nucleotide variant not specified [RCV004263561] Chr17:75564480 [GRCh38]
Chr17:73560561 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1686G>C (p.Glu562Asp) single nucleotide variant not specified [RCV004261506] Chr17:75570067 [GRCh38]
Chr17:73566148 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1976G>A (p.Arg659Gln) single nucleotide variant not specified [RCV004254031] Chr17:75570449 [GRCh38]
Chr17:73566530 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2569G>A (p.Glu857Lys) single nucleotide variant not specified [RCV004330185] Chr17:75573122 [GRCh38]
Chr17:73569203 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003325440] Chr17:72718277..74142256 [GRCh37]
Chr17:17q25.1		 pathogenic
NM_001031803.2(LLGL2):c.1715G>A (p.Arg572His) single nucleotide variant not specified [RCV004338702] Chr17:75570096 [GRCh38]
Chr17:73566177 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.1856G>T (p.Arg619Leu) single nucleotide variant not specified [RCV004338756] Chr17:75570237 [GRCh38]
Chr17:73566318 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.37C>T (p.Arg13Trp) single nucleotide variant not specified [RCV004359567] Chr17:75543463 [GRCh38]
Chr17:73539544 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2321C>T (p.Ala774Val) single nucleotide variant not specified [RCV004358148] Chr17:75571925 [GRCh38]
Chr17:73568006 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1973G>A (p.Arg658His) single nucleotide variant not specified [RCV004352759] Chr17:75570446 [GRCh38]
Chr17:73566527 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2531G>A (p.Arg844Gln) single nucleotide variant not specified [RCV004339846] Chr17:75573084 [GRCh38]
Chr17:73569165 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2332G>A (p.Gly778Ser) single nucleotide variant not specified [RCV004346925] Chr17:75571936 [GRCh38]
Chr17:73568017 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2579G>C (p.Gly860Ala) single nucleotide variant not specified [RCV004362146] Chr17:75573132 [GRCh38]
Chr17:73569213 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2872G>A (p.Ala958Thr) single nucleotide variant not specified [RCV004357507] Chr17:75573627 [GRCh38]
Chr17:73569708 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3 copy number gain not provided [RCV003485164] Chr17:73264158..74039659 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3 copy number gain not provided [RCV003485163] Chr17:73259444..73533226 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1 copy number loss not specified [RCV003987262] Chr17:73281839..73568196 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1859G>A (p.Arg620Gln) single nucleotide variant not specified [RCV004407511] Chr17:75570240 [GRCh38]
Chr17:73566321 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2006C>T (p.Pro669Leu) single nucleotide variant not specified [RCV004407513] Chr17:75570479 [GRCh38]
Chr17:73566560 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2054G>A (p.Arg685Gln) single nucleotide variant not specified [RCV004407514] Chr17:75570978 [GRCh38]
Chr17:73567059 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2281C>T (p.Arg761Trp) single nucleotide variant not specified [RCV004407515] Chr17:75571771 [GRCh38]
Chr17:73567852 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2325G>A (p.Pro775=) single nucleotide variant not specified [RCV004407516] Chr17:75571929 [GRCh38]
Chr17:73568010 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.2440G>A (p.Val814Ile) single nucleotide variant not specified [RCV004407517] Chr17:75572044 [GRCh38]
Chr17:73568125 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2564G>A (p.Arg855Gln) single nucleotide variant not specified [RCV004407518] Chr17:75573117 [GRCh38]
Chr17:73569198 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2579G>T (p.Gly860Val) single nucleotide variant not specified [RCV004407519] Chr17:75573132 [GRCh38]
Chr17:73569213 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2690G>C (p.Gly897Ala) single nucleotide variant not specified [RCV004407520] Chr17:75573243 [GRCh38]
Chr17:73569324 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.269C>T (p.Thr90Ile) single nucleotide variant not specified [RCV004407521] Chr17:75558525 [GRCh38]
Chr17:73554606 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2945G>C (p.Ser982Thr) single nucleotide variant not specified [RCV004407522] Chr17:75574252 [GRCh38]
Chr17:73570333 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.2947G>A (p.Asp983Asn) single nucleotide variant not specified [RCV004407523] Chr17:75574254 [GRCh38]
Chr17:73570335 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.3000C>T (p.Ser1000=) single nucleotide variant not specified [RCV004407524] Chr17:75574613 [GRCh38]
Chr17:73570694 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.3027C>T (p.Ala1009=) single nucleotide variant not specified [RCV004407526] Chr17:75574640 [GRCh38]
Chr17:73570721 [GRCh37]
Chr17:17q25.1		 likely benign
NM_001031803.2(LLGL2):c.3032G>C (p.Gly1011Ala) single nucleotide variant not specified [RCV004407527] Chr17:75574645 [GRCh38]
Chr17:73570726 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.3038G>A (p.Ser1013Asn) single nucleotide variant not specified [RCV004407528] Chr17:75574651 [GRCh38]
Chr17:73570732 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.310G>T (p.Val104Phe) single nucleotide variant not specified [RCV004407529] Chr17:75558566 [GRCh38]
Chr17:73554647 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.326C>T (p.Ser109Leu) single nucleotide variant not specified [RCV004407530] Chr17:75558582 [GRCh38]
Chr17:73554663 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.443C>T (p.Thr148Ile) single nucleotide variant not specified [RCV004407531] Chr17:75559323 [GRCh38]
Chr17:73555404 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.445G>A (p.Glu149Lys) single nucleotide variant not specified [RCV004407533] Chr17:75559325 [GRCh38]
Chr17:73555406 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.751G>A (p.Asp251Asn) single nucleotide variant not specified [RCV004407534] Chr17:75563388 [GRCh38]
Chr17:73559469 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.784G>A (p.Glu262Lys) single nucleotide variant not specified [RCV004407535] Chr17:75563421 [GRCh38]
Chr17:73559502 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.841A>C (p.Lys281Gln) single nucleotide variant not specified [RCV004407536] Chr17:75563766 [GRCh38]
Chr17:73559847 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1337C>T (p.Thr446Met) single nucleotide variant not specified [RCV004407504] Chr17:75568992 [GRCh38]
Chr17:73565073 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.133C>T (p.Arg45Cys) single nucleotide variant not specified [RCV004407505] Chr17:75556103 [GRCh38]
Chr17:73552184 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.155G>A (p.Arg52His) single nucleotide variant not specified [RCV004407506] Chr17:75556125 [GRCh38]
Chr17:73552206 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1655A>G (p.Asp552Gly) single nucleotide variant not specified [RCV004407507] Chr17:75570036 [GRCh38]
Chr17:73566117 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1763C>T (p.Pro588Leu) single nucleotide variant not specified [RCV004407508] Chr17:75570144 [GRCh38]
Chr17:73566225 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1769T>C (p.Val590Ala) single nucleotide variant not specified [RCV004407509] Chr17:75570150 [GRCh38]
Chr17:73566231 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_001031803.2(LLGL2):c.1802G>A (p.Arg601Gln) single nucleotide variant not specified [RCV004407510] Chr17:75570183 [GRCh38]
Chr17:73566264 [GRCh37]
Chr17:17q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7765
Count of miRNA genes:1162
Interacting mature miRNAs:1491
Transcripts:ENST00000167462, ENST00000375227, ENST00000392550, ENST00000545227, ENST00000577200, ENST00000577211, ENST00000577500, ENST00000578034, ENST00000578363, ENST00000578536, ENST00000578638, ENST00000578719, ENST00000579092, ENST00000579392, ENST00000580027, ENST00000580578, ENST00000580925, ENST00000581713, ENST00000582393, ENST00000582860, ENST00000583514, ENST00000583658
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH70937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,570,990 - 73,571,185UniSTSGRCh37
Build 361771,082,585 - 71,082,780RGDNCBI36
Celera1770,161,085 - 70,161,280RGD
Cytogenetic Map17q25.1UniSTS
HuRef1768,994,900 - 68,995,095UniSTS
RH98802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,571,116 - 73,571,261UniSTSGRCh37
Build 361771,082,711 - 71,082,856RGDNCBI36
Celera1770,161,211 - 70,161,356RGD
Cytogenetic Map17q25.1UniSTS
HuRef1768,995,026 - 68,995,171UniSTS
GeneMap99-GB4 RH Map17483.02UniSTS
RH79176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,571,116 - 73,571,261UniSTSGRCh37
Build 361771,082,711 - 71,082,856RGDNCBI36
Celera1770,161,211 - 70,161,356RGD
Cytogenetic Map17q25.1UniSTS
HuRef1768,995,026 - 68,995,171UniSTS
GeneMap99-GB4 RH Map17483.02UniSTS
D17S714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,528,082 - 73,528,201UniSTSGRCh37
Build 361771,039,677 - 71,039,796RGDNCBI36
Celera1770,117,410 - 70,117,542RGD
Cytogenetic Map17q25.1UniSTS
MARC_26641-26642:1036186601:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,565,359 - 73,566,220UniSTSGRCh37
Build 361771,076,954 - 71,077,815RGDNCBI36
Celera1770,155,454 - 70,156,315RGD
HuRef1768,989,225 - 68,990,123UniSTS
D17S631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,532,857 - 73,532,950UniSTSGRCh37
Celera1770,122,198 - 70,122,291UniSTS
Cytogenetic Map17q25.1UniSTS
HuRef1768,955,977 - 68,956,070UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 995 300 1443 556 729 398 1623 22 741 354 966 1525 171 1 49 803 1 2
Low 1442 2671 281 68 1172 67 2525 1955 2951 63 487 82 4 1155 1792 5
Below cutoff 2 19 2 49 206 216 39 2 6 5 193

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001015002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001031803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC100787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000167462   ⟹   ENSP00000167462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,525,726 - 75,575,208 (+)Ensembl
RefSeq Acc Id: ENST00000375227   ⟹   ENSP00000364375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,525,732 - 75,564,721 (+)Ensembl
RefSeq Acc Id: ENST00000392550   ⟹   ENSP00000376333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,525,697 - 75,575,209 (+)Ensembl
RefSeq Acc Id: ENST00000545227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,557,805 - 75,575,208 (+)Ensembl
RefSeq Acc Id: ENST00000577200   ⟹   ENSP00000464397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,532,493 - 75,574,906 (+)Ensembl
RefSeq Acc Id: ENST00000577211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,574,154 - 75,575,207 (+)Ensembl
RefSeq Acc Id: ENST00000577500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,567,920 - 75,575,207 (+)Ensembl
RefSeq Acc Id: ENST00000578034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,573,952 - 75,574,668 (+)Ensembl
RefSeq Acc Id: ENST00000578363   ⟹   ENSP00000464603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,525,779 - 75,564,723 (+)Ensembl
RefSeq Acc Id: ENST00000578536   ⟹   ENSP00000464451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,542,635 - 75,558,572 (+)Ensembl
RefSeq Acc Id: ENST00000578638   ⟹   ENSP00000463501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,563,774 - 75,575,194 (+)Ensembl
RefSeq Acc Id: ENST00000578719   ⟹   ENSP00000463150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,568,818 - 75,570,436 (+)Ensembl
RefSeq Acc Id: ENST00000579092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,571,425 - 75,573,253 (+)Ensembl
RefSeq Acc Id: ENST00000579392   ⟹   ENSP00000463721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,525,789 - 75,558,566 (+)Ensembl
RefSeq Acc Id: ENST00000580027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,562,280 - 75,564,700 (+)Ensembl
RefSeq Acc Id: ENST00000580578   ⟹   ENSP00000464598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,525,080 - 75,559,332 (+)Ensembl
RefSeq Acc Id: ENST00000580925   ⟹   ENSP00000461953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,543,154 - 75,556,089 (+)Ensembl
RefSeq Acc Id: ENST00000581713   ⟹   ENSP00000463390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,543,261 - 75,559,299 (+)Ensembl
RefSeq Acc Id: ENST00000582393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,573,577 - 75,575,121 (+)Ensembl
RefSeq Acc Id: ENST00000582860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,558,975 - 75,563,369 (+)Ensembl
RefSeq Acc Id: ENST00000583514   ⟹   ENSP00000462439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,573,555 - 75,574,921 (+)Ensembl
RefSeq Acc Id: ENST00000583658   ⟹   ENSP00000464483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1775,546,148 - 75,559,345 (+)Ensembl
RefSeq Acc Id: NM_001015002   ⟹   NP_001015002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,564,723 (+)NCBI
GRCh371773,521,783 - 73,571,290 (+)RGD
Build 361771,033,378 - 71,072,399 (+)NCBI Archive
Celera1770,142,313 - 70,161,385 (+)RGD
HuRef1768,945,338 - 68,995,200 (+)ENTREZGENE
CHM1_11773,586,820 - 73,625,509 (+)NCBI
T2T-CHM13v2.01776,419,063 - 76,457,887 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001031803   ⟹   NP_001026973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
GRCh371773,521,783 - 73,571,290 (+)RGD
Build 361771,033,378 - 71,082,885 (+)NCBI Archive
Celera1770,142,313 - 70,161,385 (+)RGD
HuRef1768,945,338 - 68,995,200 (+)ENTREZGENE
CHM1_11773,586,820 - 73,635,995 (+)NCBI
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004524   ⟹   NP_004515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
GRCh371773,521,783 - 73,571,290 (+)RGD
Build 361771,033,378 - 71,082,885 (+)NCBI Archive
Celera1770,142,313 - 70,161,385 (+)RGD
HuRef1768,945,338 - 68,995,200 (+)ENTREZGENE
CHM1_11773,586,820 - 73,635,995 (+)NCBI
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524802   ⟹   XP_011523104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,079 - 75,575,209 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024626   ⟹   XP_016880115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,002 - 75,575,209 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450747   ⟹   XP_024306515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,532,079 - 75,575,209 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435973   ⟹   XP_047291929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435974   ⟹   XP_047291930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,910 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435975   ⟹   XP_047291931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435976   ⟹   XP_047291932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,533,684 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435977   ⟹   XP_047291933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,543,154 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435978   ⟹   XP_047291934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,539,866 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435979   ⟹   XP_047291935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,828 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435980   ⟹   XP_047291936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435981   ⟹   XP_047291937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435982   ⟹   XP_047291938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,977 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435983   ⟹   XP_047291939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,533,300 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435984   ⟹   XP_047291940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435985   ⟹   XP_047291941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435986   ⟹   XP_047291942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435987   ⟹   XP_047291943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,924 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435988   ⟹   XP_047291944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435989   ⟹   XP_047291945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435990   ⟹   XP_047291946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435991   ⟹   XP_047291947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,919 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435992   ⟹   XP_047291948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435993   ⟹   XP_047291949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,531,063 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435994   ⟹   XP_047291950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,526,343 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435995   ⟹   XP_047291951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,095 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435996   ⟹   XP_047291952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,697 - 75,574,206 (+)NCBI
RefSeq Acc Id: XM_047435997   ⟹   XP_047291953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,551,186 - 75,575,209 (+)NCBI
RefSeq Acc Id: XM_047435998   ⟹   XP_047291954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,932 - 75,564,723 (+)NCBI
RefSeq Acc Id: XM_054316059   ⟹   XP_054172034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316060   ⟹   XP_054172035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,286 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316061   ⟹   XP_054172036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316062   ⟹   XP_054172037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,418,445 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316063   ⟹   XP_054172038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,427,075 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316064   ⟹   XP_054172039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,436,467 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316065   ⟹   XP_054172040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,433,261 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316066   ⟹   XP_054172041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,204 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316067   ⟹   XP_054172042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316068   ⟹   XP_054172043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316069   ⟹   XP_054172044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,418,368 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316070   ⟹   XP_054172045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,353 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316071   ⟹   XP_054172046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,426,691 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316072   ⟹   XP_054172047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316073   ⟹   XP_054172048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316074   ⟹   XP_054172049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316075   ⟹   XP_054172050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,300 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316076   ⟹   XP_054172051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316077   ⟹   XP_054172052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316078   ⟹   XP_054172053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316079   ⟹   XP_054172054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,295 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316080   ⟹   XP_054172055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,425,469 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316081   ⟹   XP_054172056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316082   ⟹   XP_054172057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,424,441 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316083   ⟹   XP_054172058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,719 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316084   ⟹   XP_054172059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,418,461 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316085   ⟹   XP_054172060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,063 - 76,467,375 (+)NCBI
RefSeq Acc Id: XM_054316086   ⟹   XP_054172061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,444,355 - 76,468,378 (+)NCBI
RefSeq Acc Id: XM_054316087   ⟹   XP_054172062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01776,419,308 - 76,457,887 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001015002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001026973 (Get FASTA)   NCBI Sequence Viewer  
  NP_004515 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523104 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880115 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306515 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291931 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291932 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291933 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291934 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291935 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291936 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291937 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291938 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291939 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291940 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291941 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291942 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291943 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291944 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291945 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291947 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291949 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291952 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291953 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291954 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172062 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06503 (Get FASTA)   NCBI Sequence Viewer  
  AAH10879 (Get FASTA)   NCBI Sequence Viewer  
  AAH31842 (Get FASTA)   NCBI Sequence Viewer  
  AAH64994 (Get FASTA)   NCBI Sequence Viewer  
  AAL55735 (Get FASTA)   NCBI Sequence Viewer  
  AAM98766 (Get FASTA)   NCBI Sequence Viewer  
  BAG54359 (Get FASTA)   NCBI Sequence Viewer  
  BAG62781 (Get FASTA)   NCBI Sequence Viewer  
  CAA60780 (Get FASTA)   NCBI Sequence Viewer  
  EAW89280 (Get FASTA)   NCBI Sequence Viewer  
  EAW89281 (Get FASTA)   NCBI Sequence Viewer  
  EAW89282 (Get FASTA)   NCBI Sequence Viewer  
  EAW89283 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000167462
  ENSP00000167462.5
  ENSP00000364375
  ENSP00000364375.4
  ENSP00000376333
  ENSP00000376333.4
  ENSP00000461953.1
  ENSP00000462439.1
  ENSP00000463150.1
  ENSP00000463390.1
  ENSP00000463501.1
  ENSP00000463721.1
  ENSP00000464397
  ENSP00000464397.1
  ENSP00000464451.1
  ENSP00000464483.1
  ENSP00000464598.1
  ENSP00000464603.1
GenBank Protein Q6P1M3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004515   ⟸   NM_004524
- Peptide Label: isoform a
- UniProtKB: B3KX47 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001026973   ⟸   NM_001031803
- Peptide Label: isoform c
- UniProtKB: Q14521 (UniProtKB/Swiss-Prot),   Q9BR62 (UniProtKB/Swiss-Prot),   Q6P1M3 (UniProtKB/Swiss-Prot),   B3KX47 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001015002   ⟸   NM_001015002
- Peptide Label: isoform b
- UniProtKB: Q6P1M3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523104   ⟸   XM_011524802
- Peptide Label: isoform X1
- UniProtKB: B3KX47 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880115   ⟸   XM_017024626
- Peptide Label: isoform X3
- UniProtKB: Q14521 (UniProtKB/Swiss-Prot),   Q9BR62 (UniProtKB/Swiss-Prot),   Q6P1M3 (UniProtKB/Swiss-Prot),   B3KX47 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306515   ⟸   XM_024450747
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000461953   ⟸   ENST00000580925
RefSeq Acc Id: ENSP00000464598   ⟸   ENST00000580578
RefSeq Acc Id: ENSP00000463390   ⟸   ENST00000581713
RefSeq Acc Id: ENSP00000464483   ⟸   ENST00000583658
RefSeq Acc Id: ENSP00000462439   ⟸   ENST00000583514
RefSeq Acc Id: ENSP00000364375   ⟸   ENST00000375227
RefSeq Acc Id: ENSP00000167462   ⟸   ENST00000167462
RefSeq Acc Id: ENSP00000464397   ⟸   ENST00000577200
RefSeq Acc Id: ENSP00000376333   ⟸   ENST00000392550
RefSeq Acc Id: ENSP00000463501   ⟸   ENST00000578638
RefSeq Acc Id: ENSP00000464451   ⟸   ENST00000578536
RefSeq Acc Id: ENSP00000464603   ⟸   ENST00000578363
RefSeq Acc Id: ENSP00000463150   ⟸   ENST00000578719
RefSeq Acc Id: ENSP00000463721   ⟸   ENST00000579392
RefSeq Acc Id: XP_047291951   ⟸   XM_047435995
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047291942   ⟸   XM_047435986
- Peptide Label: isoform X4
- UniProtKB: J3QRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291931   ⟸   XM_047435975
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291937   ⟸   XM_047435981
- Peptide Label: isoform X3
- UniProtKB: Q6P1M3 (UniProtKB/Swiss-Prot),   Q14521 (UniProtKB/Swiss-Prot),   Q9BR62 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047291941   ⟸   XM_047435985
- Peptide Label: isoform X4
- UniProtKB: J3QRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291946   ⟸   XM_047435990
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047291929   ⟸   XM_047435973
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291936   ⟸   XM_047435980
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047291944   ⟸   XM_047435988
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047291945   ⟸   XM_047435989
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047291940   ⟸   XM_047435984
- Peptide Label: isoform X4
- UniProtKB: J3QRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291948   ⟸   XM_047435992
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047291952   ⟸   XM_047435996
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047291935   ⟸   XM_047435979
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291930   ⟸   XM_047435974
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291947   ⟸   XM_047435991
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047291943   ⟸   XM_047435987
- Peptide Label: isoform X4
- UniProtKB: J3QRV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291954   ⟸   XM_047435998
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047291938   ⟸   XM_047435982
- Peptide Label: isoform X3
- UniProtKB: Q6P1M3 (UniProtKB/Swiss-Prot),   Q14521 (UniProtKB/Swiss-Prot),   Q9BR62 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047291950   ⟸   XM_047435994
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047291949   ⟸   XM_047435993
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047291939   ⟸   XM_047435983
- Peptide Label: isoform X3
- UniProtKB: Q6P1M3 (UniProtKB/Swiss-Prot),   Q14521 (UniProtKB/Swiss-Prot),   Q9BR62 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047291932   ⟸   XM_047435976
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291934   ⟸   XM_047435978
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291933   ⟸   XM_047435977
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047291953   ⟸   XM_047435997
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054172044   ⟸   XM_054316069
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172037   ⟸   XM_054316062
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172059   ⟸   XM_054316084
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054172049   ⟸   XM_054316074
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172036   ⟸   XM_054316061
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172043   ⟸   XM_054316068
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172048   ⟸   XM_054316073
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172053   ⟸   XM_054316078
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172034   ⟸   XM_054316059
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172042   ⟸   XM_054316067
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172051   ⟸   XM_054316076
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054172052   ⟸   XM_054316077
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054172047   ⟸   XM_054316072
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172056   ⟸   XM_054316081
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054172060   ⟸   XM_054316085
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054172041   ⟸   XM_054316066
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172035   ⟸   XM_054316060
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172054   ⟸   XM_054316079
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172050   ⟸   XM_054316075
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172062   ⟸   XM_054316087
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054172045   ⟸   XM_054316070
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172058   ⟸   XM_054316083
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054172057   ⟸   XM_054316082
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054172055   ⟸   XM_054316080
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172046   ⟸   XM_054316071
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172038   ⟸   XM_054316063
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172040   ⟸   XM_054316065
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172039   ⟸   XM_054316064
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172061   ⟸   XM_054316086
- Peptide Label: isoform X10
Protein Domains
Lethal giant larvae homologue

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6P1M3-F1-model_v2 AlphaFold Q6P1M3 1-1020 view protein structure

Promoters
RGD ID:6794273
Promoter ID:HG_KWN:27105
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392550,   NM_001015002,   NM_004524,   UC010DGF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,032,591 - 71,033,467 (+)MPROMDB
RGD ID:6811238
Promoter ID:HG_ACW:36344
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:LLGL2.HAPR07,   LLGL2.OAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,078,776 - 71,079,276 (+)MPROMDB
RGD ID:7236305
Promoter ID:EPDNEW_H23898
Type:initiation region
Name:LLGL2_2
Description:LLGL2, scribble cell polarity complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23899  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,052 - 75,525,112EPDNEW
RGD ID:7236307
Promoter ID:EPDNEW_H23899
Type:initiation region
Name:LLGL2_1
Description:LLGL2, scribble cell polarity complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23898  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,525,718 - 75,525,778EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6629 AgrOrtholog
COSMIC LLGL2 COSMIC
Ensembl Genes ENSG00000073350 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000167462 ENTREZGENE
  ENST00000167462.9 UniProtKB/Swiss-Prot
  ENST00000375227 ENTREZGENE
  ENST00000375227.8 UniProtKB/Swiss-Prot
  ENST00000392550 ENTREZGENE
  ENST00000392550.8 UniProtKB/Swiss-Prot
  ENST00000577200 ENTREZGENE
  ENST00000577200.5 UniProtKB/TrEMBL
  ENST00000578363.5 UniProtKB/Swiss-Prot
  ENST00000578536.5 UniProtKB/TrEMBL
  ENST00000578638.5 UniProtKB/TrEMBL
  ENST00000578719.1 UniProtKB/TrEMBL
  ENST00000579392.5 UniProtKB/TrEMBL
  ENST00000580578.5 UniProtKB/TrEMBL
  ENST00000580925.1 UniProtKB/TrEMBL
  ENST00000581713.5 UniProtKB/TrEMBL
  ENST00000583514.5 UniProtKB/TrEMBL
  ENST00000583658.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073350 GTEx
HGNC ID HGNC:6629 ENTREZGENE
Human Proteome Map LLGL2 Human Proteome Map
InterPro Lethal2_giant UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LLGL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3993 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3993 ENTREZGENE
OMIM 618483 OMIM
PANTHER LETHAL 2 GIANT LARVAE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LLGL SCRIBBLE CELL POLARITY COMPLEX COMPONENT 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LLGL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30397 PharmGKB
PRINTS LETHAL2GIANT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0PJJ0_HUMAN UniProtKB/TrEMBL
  B3KX47 ENTREZGENE, UniProtKB/TrEMBL
  J3KRE1_HUMAN UniProtKB/TrEMBL
  J3KSD5_HUMAN UniProtKB/TrEMBL
  J3QKM6_HUMAN UniProtKB/TrEMBL
  J3QL58_HUMAN UniProtKB/TrEMBL
  J3QLD8_HUMAN UniProtKB/TrEMBL
  J3QLV4_HUMAN UniProtKB/TrEMBL
  J3QRV5 ENTREZGENE, UniProtKB/TrEMBL
  J3QRZ8_HUMAN UniProtKB/TrEMBL
  J3QS20_HUMAN UniProtKB/TrEMBL
  J3QSA6_HUMAN UniProtKB/TrEMBL
  L2GL2_HUMAN UniProtKB/Swiss-Prot
  Q14521 ENTREZGENE
  Q6P1M3 ENTREZGENE
  Q9BR62 ENTREZGENE
UniProt Secondary Q14521 UniProtKB/Swiss-Prot
  Q9BR62 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 LLGL2  LLGL scribble cell polarity complex component 2  LLGL2  LLGL2, scribble cell polarity complex component  Symbol and/or name change 5135510 APPROVED
2016-04-12 LLGL2  LLGL2, scribble cell polarity complex component  LLGL2  lethal giant larvae homolog 2, scribble cell polarity complex component  Symbol and/or name change 5135510 APPROVED
2016-02-29 LLGL2  lethal giant larvae homolog 2, scribble cell polarity complex component  LLGL2  lethal giant larvae homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED